T49T (p.Thr49Thr) variant of OPTN (Optineurin)
T49T (p.Thr49Thr) in OPTN (Optineurin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
T49T (p.Thr49Thr) variant details
- p.Thr49Thr
- rs187734249
- gnomAD 10-13109269-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0902
- CADD 1.35
- Most common in the HGDP:SHE population (allele frequency 0.056)
- Structural context available
- Literature evidence available